L33F (p.Leu33Phe) variant of PARP1 (Poly [ADP-ribose] polymerase 1)
L33F (p.Leu33Phe) in PARP1 (Poly [ADP-ribose] polymerase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L33F (p.Leu33Phe) variant details
- p.Leu33Phe
- rs767731025
- ClinGen CA1423338
- ClinVar RCV004290049
- ExAC rs767731025
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.31
- CADD 28.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available